Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyn...
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
About this item
Full title
Author / Creator
Tarpey, Patrick S , Lucy Raymond, F , Nguyen, Lam S , Rodriguez, Jayson , Hackett, Anna , Vandeleur, Lucianne , Smith, Raffaella , Shoubridge, Cheryl , Edkins, Sarah , Stevens, Claire , O'Meara, Sarah , Tofts, Calli , Barthorpe, Syd , Buck, Gemma , Cole, Jennifer , Halliday, Kelly , Hills, Katy , Jones, David , Mironenko, Tatiana , Perry, Janet , Varian, Jennifer , West, Sofie , Widaa, Sara , Teague, John , Dicks, Ed , Butler, Adam , Menzies, Andrew , Richardson, David , Jenkinson, Andrew , Shepherd, Rebecca , Raine, Keiran , Moon, Jenny , Luo, Yin , Parnau, Josep , Bhat, Shambhu S , Gardner, Alison , Corbett, Mark , Brooks, Doug , Thomas, Paul , Parkinson-Lawrence, Emma , Porteous, Mary E , Warner, John P , Sanderson, Tracy , Pearson, Pauline , Simensen, Richard J , Skinner, Cindy , Hoganson, George , Superneau, Duane , Wooster, Richard , Bobrow, Martin , Turner, Gillian , Stevenson, Roger E , Schwartz, Charles E , Andrew Futreal, P , Srivastava, Anand K , Stratton, Michael R and Gécz, Jozef
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Nonsense-mediated mRNA decay (NMD) is of universal biological significance
1
,
2
,
3
. It has emerged as an important global RNA, DNA and translation regulatory pathway
4
. By systematically sequencing 737 genes (annotated in the Vertebrate Genome Annotation database) on the human X chromosome in 250 families with X-linked m...
Alternative Titles
Full title
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
Authors, Artists and Contributors
Author / Creator
Lucy Raymond, F
Nguyen, Lam S
Rodriguez, Jayson
Hackett, Anna
Vandeleur, Lucianne
Smith, Raffaella
Shoubridge, Cheryl
Edkins, Sarah
Stevens, Claire
O'Meara, Sarah
Tofts, Calli
Barthorpe, Syd
Buck, Gemma
Cole, Jennifer
Halliday, Kelly
Hills, Katy
Jones, David
Mironenko, Tatiana
Perry, Janet
Varian, Jennifer
West, Sofie
Widaa, Sara
Teague, John
Dicks, Ed
Butler, Adam
Menzies, Andrew
Richardson, David
Jenkinson, Andrew
Shepherd, Rebecca
Raine, Keiran
Moon, Jenny
Luo, Yin
Parnau, Josep
Bhat, Shambhu S
Gardner, Alison
Corbett, Mark
Brooks, Doug
Thomas, Paul
Parkinson-Lawrence, Emma
Porteous, Mary E
Warner, John P
Sanderson, Tracy
Pearson, Pauline
Simensen, Richard J
Skinner, Cindy
Hoganson, George
Superneau, Duane
Wooster, Richard
Bobrow, Martin
Turner, Gillian
Stevenson, Roger E
Schwartz, Charles E
Andrew Futreal, P
Srivastava, Anand K
Stratton, Michael R
Gécz, Jozef
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2872770
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2872770
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng2100
